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Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer

Annals of oncology, 2018-04, Vol.29 (4), p.1049-1055

2018

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Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA

Annals of oncology, 2017-04, Vol.28 (4), p.784-790

2017

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Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

International journal of epidemiology, 2016-12, Vol.45 (6), p.1927-1937

2016

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

Haematologica (Roma), 2016-10, Vol.101 (10), p.1180-1189

2016

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A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family

Eye (London), 2018-04, Vol.32 (4), p.806-812

2018

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Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

European journal of medical genetics, 2015-11, Vol.58 (11), p.611-616

2015

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CD226 Gly307Ser association with multiple autoimmune diseases

Genes and immunity, 2009-01, Vol.10 (1), p.5-10

2009

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Clinical validation and utility of InVision ctDNA in advanced non-small cell lung cancer (NSCLC) patients

Annals of oncology, 2018-09, Vol.29, p.vi10-vi11

2018

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Clinical outcomes in patients with advanced NSCLC treated with targeted therapies, with actionable mutations identified by InVisionFirst ctDNA assay

Annals of oncology, 2018-09, Vol.29, p.vi8-vi9

2018

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A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

British journal of dermatology (1951), 2015-07, Vol.173 (1), p.285-287

2015

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Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.506-508

2014

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Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

Archives of oral biology, 2013-05, Vol.58 (5), p.462-466

2013

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Investigating dysfunctional RNA processing in TDP-43 mouse mutants

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S32-S32

2017

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Markov Chain Monte Carlo without Likelihoods

Proceedings of the National Academy of Sciences - PNAS, 2003-12, Vol.100 (26), p.15324-15328

2003

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The pattern of polymorphism in Arabidopsis thaliana

PLoS biology, 2005-07, Vol.3 (7), p.e196-e196

2005

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Exome sequencing in a family segregating for celiac disease

Clinical genetics, 2011-08, Vol.80 (2), p.138-147

2011

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77 Volumetric modulated arc therapy breast irradiations with a monte carlo algorithm: performances obtained with monaco calculations for single and bilateral irradiations

Physica medica, 2019-12, Vol.68, p.47-47

2019

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G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.812-812

2012

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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

Nature genetics, 2009-06, Vol.41 (6), p.703-707

2009

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RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.340-346

2012

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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

Human molecular genetics, 2011-01, Vol.20 (2), p.345-353

2011

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P3.04-02 Early Plasma ctDNA Response Anticipates Clinical Response to First-Line Immunotherapy in Advanced NSCLC

Journal of thoracic oncology, 2018-10, Vol.13 (10), p.S922-S923

2018

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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.493-498

2014

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Abstract P1-20-06: Association of circulating tumor DNA with clinical outcomes in metastatic breast cancer patients

Cancer research (Chicago, Ill.), 2019-02, Vol.79 (4_Supplement), p.P1-P1-20-06

2019

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Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer

Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

CD226 Gly307Ser association with multiple autoimmune diseases

Clinical validation and utility of InVision ctDNA in advanced non-small cell lung cancer (NSCLC) patients

Clinical outcomes in patients with advanced NSCLC treated with targeted therapies, with actionable mutations identified by InVisionFirst ctDNA assay

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

Investigating dysfunctional RNA processing in TDP-43 mouse mutants

Markov Chain Monte Carlo without Likelihoods

The pattern of polymorphism in Arabidopsis thaliana

Exome sequencing in a family segregating for celiac disease

77 Volumetric modulated arc therapy breast irradiations with a monte carlo algorithm: performances obtained with monaco calculations for single and bilateral irradiations

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

P3.04-02 Early Plasma ctDNA Response Anticipates Clinical Response to First-Line Immunotherapy in Advanced NSCLC

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Abstract P1-20-06: Association of circulating tumor DNA with clinical outcomes in metastatic breast cancer patients

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